Canonical Allele Identifier: CA214806

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 156434
• ClinVar RCV Id: RCV000144497 ; RCV000167582 ; RCV000481050
• dbSNP Id: rs587776498
• ExAC: 10:135186833 G / A
• gnomAD v2: 10-135186833-G-A
• gnomAD v3: 10-133373329-G-A
• gnomAD v4: 10-133373329-G-A
• MyVariant Identifiers: chr10:g.135186833G>A (hg19) ; chr10:g.133373329G>A (hg38)
• PubMed: PMID:25393721

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373329G>A , CM000672.2:g.133373329G>A	GRCh38
NC_000010.10:g.135186833G>A , CM000672.1:g.135186833G>A	GRCh37
NC_000010.9:g.135036823G>A	NCBI36
NG_042077.1:g.5076C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.5C>T MANE Select	ENSP00000357535.3:p.Ala2Val
ENST00000368547.3:c.5C>T	ENSP00000357535.3:p.Ala2Val
NM_004092.3:c.5C>T	NP_004083.3:p.Ala2Val
XR_002956965.1:n.68C>T
NM_004092.4:c.5C>T MANE Select	NP_004083.3:p.Ala2Val